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ONTOLOGY REPORT - ANNOTATIONS


Term:Stickler syndrome
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Accession:DOID:0080046 term browser browse the term
Definition:A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. (DO)
Synonyms:narrow_synonym: Stickler syndrome, dominant
 xref: GARD:10782;   NCI:C74984;   OMIM:PS108300;   ORDO:828
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Stickler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:13592920
RGD:8554872
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:13592920
RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:7240710
RGD:8554872
RGD:12904710
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
Stickler syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:12436723
RGD:11667954
RGD:8657405
RGD:8657401
RGD:13524555
RGD:8657393
RGD:8657352
RGD:8657343
RGD:8657341
RGD:8657340
Stickler syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
RGD:8554872
Stickler Syndrome, Type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a1 collagen type IX alpha 1 chain JBrowse link 9 30,419,001 30,502,307 RGD:7240710
RGD:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
Stickler Syndrome, Type V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Stickler syndrome 5
        Marshall/Stickler Syndrome 1
        Stickler Syndrome, Type IV 2
        Stickler Syndrome, Type V 1
        Stickler syndrome 1 1
        Stickler syndrome 2 1
        otospondylomegaepiphyseal dysplasia, autosomal dominant 2
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      musculoskeletal system disease 5532
        connective tissue disease 4002
          Stickler syndrome 5
            Marshall/Stickler Syndrome 1
            Stickler Syndrome, Type IV 2
            Stickler Syndrome, Type V 1
            Stickler syndrome 1 1
            Stickler syndrome 2 1
            otospondylomegaepiphyseal dysplasia, autosomal dominant 2
paths to the root

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